@article{5c434a3e44444ddd85cdd2088592db45,
title = "Diagnostic Value of MAML2 Rearrangements in Mucoepidermoid Carcinoma",
abstract = "Mucoepidermoid carcinoma (MEC) is often seen in salivary glands and can harbor MAML2 translocations (MAML2+). The translocation status has diagnostic utility as an objective confirmation of the MEC diagnosis, for example, when distinction from the more aggressive adenosquamous carcinoma (ASC) is not straightforward. To assess the diagnostic relevance of MAML2, we examined our 5‐year experience in prospective testing of 8106 solid tumors using RNA‐seq panel testing in combinations with a two‐round Delphi‐based scenario survey. The prevalence of MAML2+ across all tumors was 0.28% (n = 23/8106) and the majority of MAML2+ cases were found in head and neck tumors (78.3%), where the overall prevalence was 5.9% (n = 18/307). The sensitivity of MAML2 for MEC was 60% and most cases (80%) were submitted for diagnostic confirmation; in 24% of cases, the MAML2 results changed the working diagnosis. An independent survey of 15 experts showed relative importance indexes of 0.8 and 0.65 for “confirmatory MAML2 testing” in suspected MEC and ASC, respectively. Real‐world evidence confirmed that the added value of MAML2 is a composite of an imperfect confirmation test for MEC and a highly specific exclusion tool for the diagnosis of ASC. Real‐world evidence can help move a rare molecular‐genetic biomarker from an emerging tool to the clinic.",
keywords = "CRTC, adenosquamous, biomarker, fusion gene, molecular testing, mucoepidermoid, next‐generation sequencing",
author = "Thierauf, {Julia C.} and Farahani, {Alex A.} and Indave, {B. Iciar} and Bard, {Adam Z.} and White, {Valerie A.} and Smith, {Cameron R.} and Hetal Marble and Hyrcza, {Martin D.} and Chan, {John K.C.} and Justin Bishop and Qiuying Shi and Kim Ely and Abbas Agaimy and Maria Martinez‐lage and Vania Nose and Miguel Rivera and Valentina Nardi and Dora Dias‐santagata and Salil Garg and Peter Sadow and Le, {Long P.} and William Faquin and Ritterhouse, {Lauren L.} and Cree, {Ian A.} and Iafrate, {A. John} and Lennerz, {Jochen K.}",
note = "Funding Information: Funding: This work is in part supported by NIH (R37 CA225655) to J.K.L. and NIH NCI 1P01CA240239‐01 to P.S. and W.F. The content of this article is solely the responsibility of the au‐ thors and does not necessarily represent the official views of the National Institute of Health or any other organization. The content of this article represents the personal views of the authors and does not represent the views of the authors{\textquoteright} employers and associated institutions. Where authors are identified as personnel of the International Agency for Research on Cancer/World Health Organi‐ zation, the authors alone are responsible for the views expressed in this article and they do not necessarily represent the decisions, policy, or views of the International Agency for Research on Cancer/World Health Organization. Funding Information: This work is in part supported by NIH (R37 CA225655) to J.K.L. and NIH NCI 1P01CA240239?01 to P.S. and W.F. The content of this article is solely the responsibility of the authors and does not necessarily represent the official views of the National Institute of Health or any other organization. The content of this article represents the personal views of the authors and does not represent the views of the authors? employers and associated institutions. Where authors are identified as personnel of the International Agency for Research on Cancer/World Health Organization, the authors alone are responsible for the views expressed in this article and they do not necessarily represent the decisions, policy, or views of the International Agency for Research on Cancer/World Health Organization. Acknowledgments: We thank all members of the Center for Integrated Diagnostics for their excel-lent technical and administrative support. Publisher Copyright: {\textcopyright} 2022 by the authors. Licensee MDPI, Basel, Switzerland.",
year = "2022",
month = apr,
day = "1",
doi = "10.3390/ijms23084322",
language = "English (US)",
volume = "23",
journal = "International journal of molecular sciences",
issn = "1661-6596",
publisher = "Multidisciplinary Digital Publishing Institute (MDPI)",
number = "8",
}